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Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
Saethre‐Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss‐of‐function variants within the coding region. To determine whether non‐codi...
Uloženo v:
| Vydáno v: | Hum Mutat |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6175480/ https://ncbi.nlm.nih.gov/pubmed/30040876 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23598 |
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